Linked Data
dbSNP Id:
rs1185108104
gnomAD v2:
7-24738135-T-TTTAA
gnomAD v3:
7-24698516-T-TTTAA
gnomAD v4:
7-24698516-T-TTTAA
MyVariant Identifiers:
chr7:g.24738135_24738136insTTAA (hg19)
chr7:g.24698516_24698517insTTAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24698519_24698522dup , CM000669.2:g.24698519_24698522dup | GRCh38 |
| NC_000007.13:g.24738138_24738141dup , CM000669.1:g.24738138_24738141dup | GRCh37 |
| NC_000007.12:g.24704663_24704666dup | NCBI36 |
| NG_011593.1:g.64501_64504dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342947.9:c.*506_*509dup | ENSP00000339587.3:n.*506_*509dup | |
| ENST00000409970.6:c.*506_*509dup | ENSP00000387119.1:n.*506_*509dup | |
| ENST00000419307.6:c.*506_*509dup | ENSP00000401332.1:n.*506_*509dup | |
| ENST00000645220.1:c.*506_*509dup MANE Select | ENSP00000494186.1:n.*506_*509dup | |
| ENST00000342947.7:c.*506_*509dup | ENSP00000339587.3:n.*506_*509dup | |
| ENST00000409970.5:c.*506_*509dup | ENSP00000387119.1:n.*506_*509dup | |
| ENST00000419307.5:c.*506_*509dup | ENSP00000401332.1:n.*506_*509dup | |
| ENST00000479636.1:n.4018_4021dup | ||
| NM_001127453.1:c.*506_*509dup | NP_001120925.1:n.*506_*509dup | |
| NM_001127454.1:c.*506_*509dup | NP_001120926.1:n.*506_*509dup | |
| NM_004403.2:c.*506_*509dup | NP_004394.1:n.*506_*509dup | |
| XM_017011802.1:c.*506_*509dup | XP_016867291.1:n.*506_*509dup | |
| XM_024446670.1:c.*506_*509dup | XP_024302438.1:n.*506_*509dup | |
| NM_004403.3:c.*506_*509dup | NP_004394.1:n.*506_*509dup | |
| NM_001127453.2:c.*506_*509dup MANE Select | NP_001120925.1:n.*506_*509dup | |
| NM_001127454.2:c.*506_*509dup | NP_001120926.1:n.*506_*509dup |